R98L (p.Arg98Leu) variant of FERMT1 (Fermitin family homolog 1)
R98L (p.Arg98Leu) in FERMT1 (Fermitin family homolog 1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R98L (p.Arg98Leu) variant details
- p.Arg98Leu
- 1000Genomes rs137862671
- ESP rs137862671
- ExAC rs137862671
- TOPMed rs137862671
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.15
- CADD 22.30
- PolyPhen-2 0.02
- SIFT 0.14
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available